Olivier Pichon

Nantes, France

Last Updated: 09/26/2026

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Found 42 publications

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2024

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Journal: American journal of human genetics

Published: May 17, 2023

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Journal: Journal of medical genetics

Published: March 07, 2023

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal: Journal of medical genetics

Published: January 10, 2022

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Journal: Clinical genetics

Published: September 21, 2021

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Journal: Neurogenetics

Published: January 19, 2021

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

Journal: European journal of medical genetics

Published: June 05, 2020

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

Journal: American journal of human genetics

Published: May 22, 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Journal: American journal of human genetics

Published: March 13, 2020

Showing 1-12 of 42

Last Updated: 09/26/2026